Clinical Genomics Report

Sample: CLINVAR_VALIDATION

VCF Type: clinvar

Report Date: 2025-07-05 21:38

Pipeline: Rare Disease Variant Prioritization v2.0

Executive Summary

379

High Priority Variants

6187

Medium Priority Variants

3389

Low Priority Variants

9955

Total Variants

Clinical Interpretation

379 high-priority variants identified.
Multiple variants suggest complex inheritance or phenotypic overlap.

Top 20 Prioritized Variants

CHROM POS REF ALT SYMBOL Consequence CLIN_SIG priority_score
0 1 1789052 CCT C GNB1 frameshift_variant ['Pathogenic'] 17.0
1 1 1527721 AAC A ATAD3A frameshift_variant ['Pathogenic'] 17.0
2 1 1337995 CG C DVL1 frameshift_variant ['Pathogenic'] 17.0
3 1 1338000 CT C DVL1 frameshift_variant ['Pathogenic'] 17.0
4 1 1517250 GC G ATAD3A frameshift_variant ['Pathogenic'] 17.0
5 1 1338023 CG C DVL1 frameshift_variant ['Pathogenic'] 17.0
6 1 1338033 TAGGCAGG C DVL1 frameshift_variant ['Pathogenic'] 17.0
7 1 1338045 AA G DVL1 frameshift_variant ['Pathogenic'] 17.0
8 1 1338053 TG T DVL1 frameshift_variant ['Pathogenic'] 17.0
9 1 1338059 TC T DVL1 frameshift_variant ['Pathogenic'] 17.0
10 1 1338086 AC A DVL1 frameshift_variant ['Pathogenic'] 17.0
11 1 1338092 AG A DVL1 frameshift_variant ['Pathogenic'] 17.0
12 1 1338096 CA C DVL1 frameshift_variant ['Pathogenic'] 17.0
13 1 1338098 GGGGGCAGCCGGGT G DVL1 frameshift_variant ['Pathogenic'] 17.0
14 1 1338107 CG C DVL1 frameshift_variant ['Pathogenic'] 17.0
15 1 1051635 C CTG AGRN frameshift_variant ['Pathogenic'] 17.0
16 1 1338107 CGGGTGGGGCAGCG C DVL1 frameshift_variant ['Pathogenic/Likely_pathogenic'] 17.0
17 1 1014316 C CG ISG15 frameshift_variant ['Pathogenic'] 17.0
18 1 1045840 GACGGCCGTGC G AGRN frameshift_variant ['Pathogenic'] 17.0
19 1 1338143 AG A DVL1 frameshift_variant ['Pathogenic'] 17.0

This report is for research purposes. Clinical decisions should involve genetic counseling.